| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | CLCN2, LOC129938055 (L21fs) | Duplication (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +1 more | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperaldosteronism type II +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperaldosteronism type II +4 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperaldosteronism type II +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperaldosteronism type II +3 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +2 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +4 more | |
| | | Single nucleotide variant (splice donor variant) | Familial hyperaldosteronism type II +3 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +3 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +2 more | |
| | | Duplication (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 11 +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Deletion (frameshift variant +1 more) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | CLCN2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Deletion (splice acceptor variant +1 more) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Duplication (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Deletion (inframe_deletion) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| | | Single nucleotide variant (nonsense) | CLCN2-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (frameshift variant) | Leukoencephalopathy with mild cerebellar ataxia and white matter edema +1 more | GConflicting classifications of pathogenicity |